{"orpha":694356,"name":"ADAR-related hereditary spastic paraplegia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADAR1-related hereditary spastic paraplegia","Adenosine deaminase RNA specific-related hereditary spastic paraplegia"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-694356/","orphanet_url":"https://www.orpha.net/en/disease/detail/694356","names":{"fr":{"name":"Paraplégie spastique héréditaire associée à ADAR","synonyms":["Paraplégie spastique héréditaire associée au gène Adenosine deaminase RNA specific","Paraplégie spastique héréditaire associée à ADAR1"]},"de":{"name":"Hereditäre spastische Paraplegie, ADAR-assoziierte","synonyms":["Hereditäre spastische Paraplegie, ADAR1-assoziierte"]},"es":{"name":"Paraplejía espástica hereditaria asociada a ADAR","synonyms":["Paraplejía espástica hereditaria asociada a ADAR1","Paraplejía espástica hereditaria asociada a la adenosina desaminasa específica de ARN"]},"it":{"name":"Paraplegia spastica ereditaria correlata ad ADAR","synonyms":["Paraplegia spastica ereditaria associata al gene ADAR1","Paraplegia spastica ereditaria associata all'adenosina deaminasi RNA-specifica","Paraplegia spastica ereditaria correlata ad ADAR1"]},"nl":{"name":"ADAR-gerelateerde hereditaire spastische paraplegie","synonyms":["ADAR1-gerelateerde hereditaire spastische paraplegie","Adenosinedeaminase RNA-specifiek-gerelateerde hereditaire spastische paraplegie"]},"pt":{"name":"ADAR1-related hereditary spastic paraplegia"},"pl":{"name":"Dziedziczna paraplegia spastyczna związana z ADAR","synonyms":["ADAR1-related hereditary spastic paraplegia","Adenosine deaminase RNA specific-related hereditary spastic paraplegia"]},"cs":{"name":"ADAR-related hereditary spastic paraplegia","synonyms":["ADAR1-related hereditary spastic paraplegia","Adenosine deaminase RNA specific-related hereditary spastic paraplegia"]}},"xrefs":[{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.00","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100980,"name":"Autosomal dominant pure spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ADAR","name":"adenosine deaminase RNA specific","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25243380[PMID]_25604658[PMID]","hgnc":"225","ensembl":"ENSG00000160710","omim":"146920","loci":["1q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}